Hemizygosity of the MIR17HG gene encoding the miR-17 ~ 92 cluster is associated with Feingold syndrome 2 characterized by intellectual disability, skeletal abnormalities, short stature, and microcephaly. Here, we report on a female with a de novo 13q31.3 microduplication encompassing MIR17HG but excluding GPC5. She presented developmental delay, skeletal and digital abnormalities, and features such as tall stature and macrocephaly mirroring those of Feingold syndrome 2 patients. The limited extent of the proband’s rearrangement to the miR cluster and the corresponding normal expression level of the neighboring GPC5 in her cells, together with previously described data on affected individuals of two families carrying overlapping duplications of the miR-17 ~ 92 cluster that comprise part of GPC5, who likewise presented macrocephaly, developmental delay, as well as skeletal, digital and stature abnormalities, allow to define a new syndrome due to independent microduplication of the miR-17 ~ 92 cluster.

编码miR- 17〜92簇的MIR17HG基因的半合子性与以智力残疾，骨骼异常，矮小和小头畸形为特征的Feingold综合征2相关。在这里，我们报道了一位具有从头开始的13q31.3微复制的女性，该复制包括MIR17HG但不包括GPC5。她表现出发育迟缓，骨骼和数字异常，以及身材高大和大头畸形等特征，反映了Feingold综合征2的患者。先证者重排到miR簇的程度有限，并且邻近GPC5的对应正常表达水平在她的细胞中，以及先前描述的有关两个家族的受影响个体的数据，这些家族携带着重叠重复的miR- 17〜92簇，组成GPC5的一部分，它们同样表现出大头畸形，发育迟缓以及骨骼，数字和身高异常，由于miR-17〜92簇的独立微复制，允许定义新的综合征。